Acromesomelic Dysplasia Hunter Thompson Type
What is Acromesomelic Dysplasia Hunter Thompson Type?
Acromesomelic Dysplasia Hunter Thompson Type is a type of Acromesomelic Dysplasia. These types of dysplasias are very rare and Acromesomelic Dysplasia Hunter Thompson Type is extremely rare with less than 10 cases reported in the literature. Acromesomelic Dysplasia Hunter Thompson Type is a form of short-limb dwarfism, which is is marked by short forearms and forelegs. In this particular form of Acromesomelic Dysplasia affects the lower limbs at a higher rate than the upper limbs.
These patients will also suffer from abnormalities in the bones of the hands and feet and will suffer from frequent large joint dislocations.
What are the symptoms of Acromesomelic Dysplasia Hunter Thompson Type?
- Short stature
- Ankle abnormalities including fused ankle bones
- Short, irregular shaped toes and fingers digits
- Underdeveloped thumb
- Elbow, kneecap and hip dislocations
- Short foot & toes
- Mental retardation
- Pelvis anomaly
- Restricted joint mobility
- Curved spine
What causes Acromesomelic Dysplasia Hunter Thompson Type?
The direct link to a genetic cause forAcromesomelic Dysplasia Hunter Thompson Type has not been completely established, but it is theorized that the mutation occurs in the cartilage-derived morphogenetic protein-1 (CMDP-1) on human chromosome 20q11.2.
Acromesomelic Dysplasia Hunter Thompson Type is inherited in an autosomal recessively pattern.
How is Acromesomelic Dysplasia Hunter Thompson Type diagnosed?
Acromesomelic Dysplasia Hunter Thompson Type is diagnosed by physical and radiographic examinations post-birth.
What are the treatments for Acromesomelic Dysplasia Hunter Thompson Type?
There is no cure for Acromesomelic Dysplasia Hunter Thompson Type, as it is a genetic disease, and treatment is confined to dealing with the patient’s particular symptoms.
